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Variants & evidence
7,135 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| ATM C2488Y1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID2849Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the C2488Y variant on ATM expression was tested by weste… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM c.7089+1del1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID2830Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the c.7089+1del variant on ATM expression was tested by … (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM c.7515+1_2del1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID2831Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the c.7515+1_2del variant on ATM expression was tested b… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM c.902-1G>T1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID2224Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the c.902-1G>T variant on ATM expression was tested by w… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM D1682H1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID2845Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the D1682H variant on ATM expression was tested by weste… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM D1930V1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 2 | accepted | EID2837Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the D1930V variant on ATM expression was tested by weste… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM D2870A or N2875K3 | ||||||||
| (oncogenic) | Lymphoma | Oncogenic | D | Supports Oncogenicity | 3 | submitted | EID12756In mice, the authors expressed two ATM missense variants (D2880A and N2885K) and a hematopoietic stem cell specific Cre recombinase that inactivates the conditional ATM allele (which behaves similarly… (full text at CIViC) PMID 27304073 · Yamamoto et al., 2016 · Open in CIViC | civic |
| (prognostic) | Lymphoma | Prognostic | D | Supports Poor Outcome | 2 | submitted | EID12757In mice, the authors expressed two ATM missense variants (D2880A and N2885K) and a hematopoietic stem cell specific Cre recombinase that inactivates the conditional ATM allele (which behaves similarly… (full text at CIViC) PMID 27304073 · Yamamoto et al., 2016 · Open in CIViC | civic |
| Irinotecan | Lymphoma | Predictive | D | Supports Sensitivity Response | 3 | submitted | ||
| ATM E2187*1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID2839Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the E2187* variant on ATM expression was tested by weste… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM F1025L1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID2835Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the F1025L variant on ATM expression was tested by weste… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM F2732V1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID2841Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the F2732V variant on ATM expression was tested by weste… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM F858L1 | ||||||||
| Selumetinib | Malignant Lung Neoplasm | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID5127In a PDX lung cancer model containing a heterozygous ATM F858L mutation, the MEK inhibitor selumetinib completely blocked tumor growth and induced tumor regression. PMID 27922010 · Smida et al., 2016 · Open in CIViC | civic |
| ATM K293*1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID2832Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the K293* variant on ATM expression was tested by wester… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM K468FS1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Does Not Support Resistance | 2 | accepted | EID2843Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the K468FS variant on ATM expression was tested by weste… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM L2427P1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID2840Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the L2427P variant on ATM expression was tested by weste… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM Loss1 | ||||||||
| Trametinib | Malignant Lung Neoplasm | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID5126Knockdown or inactivation of ATM in KRAS-mutant (H460), KRAS- and BRAF-wildtype (H322), and BRAF-mutant (H1755) lung cancer cell lines sensitized these cell lines to trametinib. PMID 27922010 · Smida et al., 2016 · Open in CIViC | civic |
| ATM Loss-of-function1 | ||||||||
| Olaparib | Lung Adenocarcinoma | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID5995Bi-allelic Atm deletion in mouse models of Kras-mutant lung adenocarcinoma does not affect cisplatin responses. In marked contrast, Atm-deficient tumors displayed an enhanced response to the topoisome… (full text at CIViC) PMID 28363999 · Schmitt et al., 2017 · Open in CIViC | civic |
| ATM Mutation17 | ||||||||
| (prognostic) | Chronic Lymphocytic Leukemia | Prognostic | A | Supports Poor Outcome | 5 | accepted | EID1539In a study of 406 previously untreated CLL cases, a multivariate analysis indicated that aberrations (N=44; mixed pathogenic germline and somatic) in exons 2-63 of ATM were significantly associated wi… (full text at CIViC) PMID 26837699 · Nadeu et al., 2016 · Open in CIViC | civic |
| 〃 | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID2927ATM point mutations were found in 8/57 patients with CLL and were associated with a shorter treatment-free interval, suggesting a more aggressive course. PMID 21993670 · Guarini et al., 2012 · Open in CIViC | civic |
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | ||||
| ATM Mutation + CSF2RB Mutation + NTRK1 Mutation + PIK3CB Mutation + PIK3R1 Mutation + TP53 MutationATMTP53PIK3R1PIK3CBNTRK1CSF2RB1 | ||||||||
| Doxorubicin | Sarcoma | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID12721In primary soft tissue sarcoma cultures (UPS n = 25, SS n = 12), tumors with at least one mutation in apoptosis pathway genes (TP53, ATM, PIK3CB, PIK3R1, NTRK1 or CSF2RB; Mut+ n = 10, Mut− n = 27) wer… (full text at CIViC) PMID 35406568 · Kirilin et al., 2022 · Open in CIViC | civic |
| ATM N2875H1 | ||||||||
| Olaparib | Malignant Prostate Neoplasm | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID648Treatment with the PARP inhibitor olaparib in patients whose prostate cancers were no longer responding to standard treatments and who had defects in DNA-repair genes led to a high response rate. Over… (full text at CIViC) PMID 26510020 · Mateo et al., 2015 · Open in CIViC | civic |
| ATM Oncogenic Mutations (loss of function alterations)1 | ||||||||
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11842Mantle cell lymphoma is characterized by inactivation of the ATM gene PMID 10706620 · Schaffner et al., 2000 · Open in CIViC | civic |
| ATM Q1084*1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | — | submitted | EID2836In an in vitro study using primary chronic lymphocytic leukemia (CLL) cells from patients with mutated (n=8) and wildtype (n=5) ATM, inhibition of cell growth was used as an assay to determine sensiti… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM Q984E1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | — | submitted | EID2834In an in vitro study using primary chronic lymphocytic leukemia (CLL) cells from patients with mutated (n=8) and wildtype (n=5) ATM, inhibition of cell growth was used as an assay to determine sensiti… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM R1575H1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | — | submitted | EID2847In an in vitro study using primary chronic lymphocytic leukemia (CLL) cells from patients with mutated (n=8) and wildtype (n=5) ATM, inhibition of cell growth was used as an assay to determine sensiti… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM R2034P1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | — | submitted | EID2838In an in vitro study using primary chronic lymphocytic leukemia (CLL) cells from patients with mutated (n=8) and wildtype (n=5) ATM, inhibition of cell growth was used as an assay to determine sensiti… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM R2034Ter1 | ||||||||
| Olaparib | Pancreatic Ductal Adenocarcinoma | Predictive | C | Supports Sensitivity Response | 1 | submitted | EID13230A 77 year old man with metastatic pancreatic ductal adenocarcinoma with somatic ATM R2034Ter mutation received off label olaparib after prior chemotherap. His disease remained stable for 18 months. PMID 40273902 · Vornhülz et al., 2025 · Open in CIViC | civic |
| ATM R2459C1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | — | submitted | EID2833In an in vitro study using primary chronic lymphocytic leukemia (CLL) cells from patients with mutated (n=8) and wildtype (n=5) ATM, inhibition of cell growth was used as an assay to determine sensiti… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM R3008C1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID2223Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the R3008C variant on ATM expression was tested by weste… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM R777FS1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | — | submitted | EID2842In an in vitro study using primary chronic lymphocytic leukemia (CLL) cells from patients with mutated (n=8) and wildtype (n=5) ATM, inhibition of cell growth was used as an assay to determine sensiti… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM S2289*1 | ||||||||
| Olaparib | Malignant Prostate Neoplasm | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID647Treatment with the PARP inhibitor olaparib in patients whose prostate cancers were no longer responding to standard treatments and who had defects in DNA-repair genes led to a high response rate. Over… (full text at CIViC) PMID 26510020 · Mateo et al., 2015 · Open in CIViC | civic |
| ATM T2666A1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID2221Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. Cells were treated with doxorubicin to induce double-strand (DSB) and … (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM Underexpression2 | ||||||||
| (prognostic) | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID156443 B-CLL patients with LoH or reduced protein levels (<50% normal expression, radioimmunoassay, western blot) of ATM were found to have significantly shorter overall survival (35.6 vs. 97.3 months; P=… (full text at CIViC) PMID 9788599 · Starostik et al., 1998 · Open in CIViC | civic |
| 〃 | Malignant Pancreatic Neoplasm | Prognostic | B | Supports Poor Outcome | 2 | accepted | EID1292Absent expression of ATM, as assessed by IHC in 133 pancreatic ductal adenocarcinomas, was found to be associated with dismal prognosis (median survival, 9.6 months), whereas expression of ATM was ass… (full text at CIViC) PMID 25423555 · Kamphues et al., 2015 · Open in CIViC | civic |
Data updated 18 hours agoSource updated unknownsource: civic (CC0)
Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.
In a mouse model, expression of kinase-dead ATM missense variants (D2880A and N2885K) combined with Cre-mediated inactivation of a conditional wild-type ATM allele generated Atm KD/− hematopoietic cel… (full text at CIViC)
PMID 27304073 · Yamamoto et al., 2016 · Open in CIViC
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EID11908This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Only genes that have been confirmed by other similar studies were added to … (full text at CIViC) PMID 28985567 · Reddy et al., 2017 · Open in CIViC |
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| Camptothecin | Lymphoma | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID12758In murine embryonic fibroblasts (MEFs), the authors expressed two ATM missense variants (D2880A and N2885K) and a hematopoietic stem cell specific Cre recombinase that inactivates the conditional ATM … (full text at CIViC) PMID 27304073 · Yamamoto et al., 2016 · Open in CIViC | civic |
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 4 | accepted | EID2222Primary cells from chronic lymphocytic leukemia patients were treated with doxorubicin to induce double-strand (DSB). In this setting, cells harboring rare ATM variants (n=8) had significantly higher … (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| Olaparib | Castration-Resistant Prostate Carcinoma | Predictive | A | Supports Sensitivity Response | 4 | accepted | EID8505This study (PMID 32343890) by de Bono et al, is a randomized, open-label, phase 3 trial evaluating the PARP inhibitor olaparib in 387 men with metastatic castration-resistant prostate cancer (mCRPC) w… (full text at CIViC) PMID 32343890 · de Bono et al., 2020 · Open in CIViC | civic |
| 〃 | Malignant Prostate Neoplasm | Predictive | B | Does Not Support Sensitivity Response | 3 | submitted | EID7458In a retrospective study, 23 consecutive patients with prostate cancer harboring germline BRCA1/2 or ATM mutations were treated with olaparib were reviewed. This study included 2 patients with BRCA1 m… (full text at CIViC) PMID 30797618 · Marshall et al., 2019 · Open in CIViC | civic |
| 〃 | Malignant Prostate Neoplasm | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID7472In a phase 2 trial, patients with metastatic castration-resistant prostate cancer harboring DNA damage repair (DDR) gene aberrations were treated with olaparib. In gene testing, samples from tumor tis… (full text at CIViC) | civic |
| 〃 | Malignant Lung Neoplasm | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID13084In this phase II basket trial (TAPUR), response to olaparib treatment was examined in four cohorts with ATM mutations. In the lung cancer cohort (20 evaluable patients) there were four PRs and five pa… (full text at CIViC) PMID 41538762 · Carrizosa et al., 2026 · Open in CIViC | civic |
| 〃 | Malignant Colorectal NeoplasmCURATED_BROADER | Predictive | B | Does Not Support Sensitivity Response | 2 | submitted | EID13082In this phase II basket trial (TAPUR), response to olaparib treatment was examined in four cohorts with ATM mutations. In the colorectal cancer cohort (27 evaluable patients) there was one PR and thre… (full text at CIViC) PMID 41538762 · Carrizosa et al., 2026 · Open in CIViC | civic |
| 〃 | Malignant Pancreatic Neoplasm | Predictive | B | Does Not Support Sensitivity Response | 2 | submitted | EID13083In this phase II basket trial (TAPUR), response to olaparib treatment was examined in four cohorts with ATM mutations. In the pancreatic cancer cohort (25 evaluable patients) there was one PR and five… (full text at CIViC) PMID 41538762 · Carrizosa et al., 2026 · Open in CIViC | civic |
| 〃 | Malignant Prostate Neoplasm | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID1960Response to olaparib was observed in 4 of 5 with prostate cancer patients with ATM aberrations (2 germline). PMID 26510020 · Mateo et al., 2015 · Open in CIViC | civic |
| 〃 | Hematopoietic and Lymphoid Cell NeoplasmALIAS | Predictive | D | Supports Sensitivity Response | 5 | accepted | EID455Olaparib was found to inhibit cancer cell growth in ATM mutant cell lines of several blood cancers including Lymphoblastoid Leukemia, Mantle Cell Lymphoma, Chronic Lymphocytic Leukemia, and in a murin… (full text at CIViC) PMID 20739657 · Weston et al., 2010 · Open in CIViC | civic |
| 〃 | Mantle Cell Lymphoma | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1907Two ATM deficient mantle cell lymphoma (MCL) cell lines were more sensitive to PARP-1 inhibition with olaparib or PJ-34 than 4 other MCL cell lines. shRNA mediated ATM knockdown in a cell line increas… (full text at CIViC) PMID 20124459 · Williamson et al., 2010 · Open in CIViC | civic |
| Rucaparib | Castration-Resistant Prostate Carcinoma | Predictive | B | Does Not Support Sensitivity Response | 4 | accepted | EID13268In the exploratory ATM subgroup of the randomized phase III TRITON3 trial, 103 patients with metastatic castration-resistant prostate cancer harboring germline or somatic deleterious ATM alterations w… (full text at CIViC) PMID 36795891 · Fizazi et al., 2023 · Open in CIViC | civic |
| Enzalutamide + TalazoparibCombination | Castration-Resistant Prostate Carcinoma | Predictive | B | Does Not Support Sensitivity Response | 1 | submitted | EID11736This phase 3 study evaluated the PARP inhibitor talazoparib in combination with the androgen receptor inhibitor enzalutamide as a first-line treatment in patients with metastatic castration-resistant… (full text at CIViC) PMID 38049622 · Fizazi et al., 2024 · Open in CIViC | civic |
| Temozolomide | GlioblastomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID452Glioblastoma cell lines were shown to have increased sensitivity to Temozolomide when siRNA-induced ATM knockdown was applied. PMID 23960094 · Eich et al., 2013 · Open in CIViC | civic |